家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_007294.4(BRCA1):c.2307_2313del (p.Ile769fs)	BRCA1	Pathogenic	17	41245235	41245241	CCAATGAA	C	reviewed by expert panel	ClinGen:CA10589865
Insertion	NM_007294.4(BRCA1):c.2311_2312insC (p.Leu771fs)	BRCA1	Pathogenic	17	41245236	41245237	A	AG	reviewed by expert panel	ClinGen:CA10589866
single nucleotide variant	NM_007294.4(BRCA1):c.2309C>G (p.Ser770Ter)	BRCA1	Pathogenic	17	41245239	41245239	G	C	reviewed by expert panel	ClinGen:CA10589867
Deletion	NM_007294.4(BRCA1):c.2273del (p.Leu758fs)	BRCA1	Pathogenic	17	41245275	41245275	CA	C	reviewed by expert panel	ClinGen:CA10589868
Deletion	NM_007294.4(BRCA1):c.2222_2223del (p.Val740_Ser741insTer)	BRCA1	Pathogenic	17	41245325	41245326	TAG	T	reviewed by expert panel	ClinGen:CA10589869
Duplication	NM_007294.4(BRCA1):c.2223dup (p.Asn742Ter)	BRCA1	Pathogenic	17	41245324	41245325	T	TA	reviewed by expert panel	ClinGen:CA10589870
Duplication	NM_007294.4(BRCA1):c.2155_2221dup (p.Ser741Ter)	BRCA1	Pathogenic	17	41245326	41245327	G	GACACTTTAACTGTTTCTAGTTTCTCTTCTTTTTCTTCTCTTGGAAGGCTAGGATTGACAAATTCTTT	reviewed by expert panel	ClinGen:CA10589871
Indel	NM_007294.4(BRCA1):c.2214_2218delinsAAA (p.Lys739fs)	BRCA1	Pathogenic	17	41245330	41245334	CTTTA	TTT	reviewed by expert panel	ClinGen:CA10589872
Deletion	NM_007294.4(BRCA1):c.2218del (p.Val740fs)	BRCA1	Pathogenic	17	41245330	41245330	AC	A	reviewed by expert panel	ClinGen:CA10589873
Duplication	NM_007294.4(BRCA1):c.2211dup (p.Val738fs)	BRCA1	Pathogenic	17	41245336	41245337	C	CT	reviewed by expert panel	ClinGen:CA10589874